ClinVar Miner

List of variants in gene NPC1 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000271.5(NPC1):c.-32C>T rs114070977 0.00885
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_000271.5(NPC1):c.3592-42G>C rs149111199 0.00228
NM_000271.5(NPC1):c.881+82G>A rs562046566 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000271.5(NPC1):c.631+17C>T rs115397659 0.00083
NM_000271.5(NPC1):c.1553+18A>G rs373017634 0.00041
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734 0.00018
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881 0.00016
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.1695C>T (p.Phe565=) rs373094778 0.00012
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000271.5(NPC1):c.3477+15A>G rs369049242 0.00009
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643 0.00007
NM_000271.5(NPC1):c.181-4A>C rs374571310 0.00004
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521 0.00003
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.2778G>A (p.Ala926=) rs754772486 0.00001
NM_000271.5(NPC1):c.956-11C>T rs780491021 0.00001
NM_000271.5(NPC1):c.1947+10_1947+11insT rs1555634677
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insT rs1555634683
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.881+37C>G rs142700149

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